It’s my genome: should researchers be obliged to return genetic data to research participants?

What ELSI is new (article)This commentary in the Genomics Law Report’s ongoing series What ELSI is New? is contributed by Daniel MacArthur, Wellcome Trust Sanger Institute and Genetic Future.

Alice signed up as a “healthy control” for a research project into the genetics of type 2 diabetes. During the project, researchers identified a variation in Alice’s BRCA1 gene that is known to be associated with a high risk of breast cancer. Alice is unaware that she carries this variant, and if she was told about it she would be able to take steps to minimise her risk of cancer.

It is clearly in Alice’s best interests to be given the option to be informed about this discovery – and yet in most research studies she would have no such opportunity. Instead, Alice is likely to have signed an informed consent form advising her that she will not receive any findings from the research study, and that indeed she has no automatic right to access any of the data generated from her DNA during the project.

As genetic research studies move into the era of whole-genome sequencing, and as cohorts of patients and controls grow ever larger, the frequency with which researchers uncover such medically relevant “incidental findings” will increase sharply.

Returning incidental findings poses major challenges for researchers: it requires disrupting well-established protocols for informed consent and subject anonymisation, and establishing new frameworks for responsible data return and counselling. Yet the alternative approach – withholding medically useful (or even simply intellectually interesting) information from research subjects even if they request it – is ethically problematic. In the absence of convincing evidence that disclosure of results causes harm, I would argue that the default position should be that research participants have complete access to their own genetic data if they request it.

In addition to the ethical imperative to return medically actionable data to participants, open return policies may well prove to have non-trivial practical benefits: the promise of receiving some tangible benefit from participation is likely to improve recruitment and retention rates.